List of variants in gene TTR studied for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.337-18G>C	rs36204272	0.06198
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	rs1800458	0.05309
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000371.4(TTR):c.336+19G>A	rs75517067	0.00309
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000371.4(TTR):c.360C>T (p.Ser120=)	rs150127220	0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=)	rs2276382	0.00104
NM_000371.4(TTR):c.3_11del	rs143948820	0.00076
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00040
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	rs138065384	0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His)	rs148538950	0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His)	rs121918095	0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.384C>T (p.Ala128=)	rs143906738	0.00015
NM_000371.4(TTR):c.280G>C (p.Asp94His)	rs730881164	0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)	rs76410435	0.00006
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val)	rs121918092	0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	rs745834030	0.00003
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	rs121918070	0.00001
NM_000371.4(TTR):c.337-13T>C	rs762691667	0.00001
NM_000371.4(TTR):c.75C>T (p.Thr25=)	rs750051388	0.00001
NM_000371.4(TTR):c.11A>T (p.His4Leu)	rs1157253322
NM_000371.4(TTR):c.148G>C (p.Val50Leu)	rs28933979
NM_000371.4(TTR):c.201-3T>C	rs2073510064
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)	rs2073510805
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	rs121918071
NM_000371.4(TTR):c.70-19G>A	rs548935944
NM_000371.4(TTR):c.70-7C>T	rs587780990

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